A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241964



Internal ID22375119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:102635341..102647171hg38UCSC Ensembl
Outerchr10:104395098..104406928hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252755, nssv14252756, nssv14252754, nssv14252762, nssv14252757, nssv14252761, nssv14252760, nssv14252758, nssv14252759
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTRIM8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241964
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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